PDSS1 Gene: Decaprenyl Diphosphate Synthase Subunit 1
Genetic insights into PDSS1: function, associated diseases, expression, and mutations
Gene Information Card
| Symbol | PDSS1 |
|---|---|
| Full Name | Decaprenyl diphosphate synthase subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p12.1 |
| NCBI Gene ID | 23590 ncbi.nlm.nih.gov/gene/23590 |
| Ensembl ID | ENSG00000148459 |
| UniProt ID | Q9Y2Q9 |
| OMIM ID | 607429 |
| HGNC ID | 17796 |
| Aliases | COQ1, DPS, trans-prenyltransferase |
Description
The PDSS1 gene encodes the subunit 1 of decaprenyl diphosphate synthase, a key enzyme in the biosynthesis of coenzyme Q10 (ubiquinone). This enzyme catalyzes the condensation of isopentenyl diphosphate with allylic diphosphates to form the polyisoprenoid side chain of coenzyme Q10, which is essential for mitochondrial electron transport and antioxidant defense. Mutations in PDSS1 are associated with primary coenzyme Q10 deficiency, leading to a spectrum of clinical manifestations including encephalopathy, nephropathy, and myopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary coenzyme Q10 deficiency | Loss-of-function mutations in PDSS1 impair coenzyme Q10 biosynthesis, leading to mitochondrial dysfunction and oxidative stress. | ClinVar, OMIM (607429) |
| Leigh syndrome | PDSS1 mutations can cause mitochondrial encephalopathy resembling Leigh syndrome, with bilateral brain lesions and respiratory chain defects. | Case reports in PubMed (e.g., Mollet et al., 2007) |
| Nephrotic syndrome | Coenzyme Q10 deficiency due to PDSS1 mutations can present with steroid-resistant nephrotic syndrome, often with neurological involvement. | ClinVar, literature (e.g., Heeringa et al., 2011) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 10.2 | Medium |
| Heart | 8.7 | Low |
| Brain | 6.3 | Low |
| Skeletal Muscle | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression in embryonic kidney cells |
| HepG2 | 12.8 | Hepatocellular carcinoma cell line |
| K562 | 9.4 | Chronic myelogenous leukemia |
| A549 | 7.2 | Lung carcinoma |
| MCF7 | 6.5 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1138C>T (p.Arg380Ter) | Nonsense | Rare | Premature stop codon leading to truncated protein and loss of function |
| c.688A>G (p.Thr230Ala) | Missense | Rare | Amino acid substitution affecting enzyme activity |
| c.1045G>A (p.Gly349Ser) | Missense | Rare | Impaired decaprenyl diphosphate synthase activity |
| c.1129G>A (p.Gly377Arg) | Missense | Rare | Reduced coenzyme Q10 production |
Mutation functional classification
Loss of Function (LOF)
Most PDSS1 mutations are loss-of-function, reducing or abolishing decaprenyl diphosphate synthase activity, leading to coenzyme Q10 deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PDSS1.
Dominant Negative (DN)
Some missense mutations may exert a dominant-negative effect by interfering with the heterotetrameric complex formation, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • decaprenyl-diphosphate synthase activity | • transferase activity |
| • metal ion binding | • coenzyme Q10 biosynthetic process |
| • mitochondrial electron transport | • ubiquinol to cytochrome c |
| • isoprenoid biosynthetic process |
Pathways
• Coenzyme Q10 biosynthesis
• Metabolic pathways
• Mitochondrial electron transport chain
Protein Summary
The PDSS1 protein is a subunit of decaprenyl diphosphate synthase, which forms a heterotetramer with PDSS2. It is localized in the mitochondria and catalyzes the elongation of the polyisoprenoid side chain of coenzyme Q10. The protein contains a polyprenyl synthetase domain and requires divalent metal ions for catalytic activity. Defects in PDSS1 lead to primary coenzyme Q10 deficiency, a rare autosomal recessive disorder.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDSS1 Knockout HEK293 Cell Line | EDJ-KQ8081 | Human | 23590 | Details Get a Quote |
| PDSS1 Knockout A-549 Cell Line | EDJ-KQ33921 | Human | 23590 | Details Get a Quote |
| PDSS1 Knockout HCT 116 Cell Line | EDJ-KQ33922 | Human | 23590 | Details Get a Quote |
| PDSS1 Knockout HeLa Cell Line | EDJ-KQ33923 | Human | 23590 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
